rs187009472

This variant is located in the SYTL5 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About SYTL5

The protein encoded by this gene belongs to the synaptotagmin-like (Slp) protein family, which contains a unique homology domain at the N-terminus, referred to as the Slp homology domain (SHD). The SHD functions as a binding site for Rab27A, which plays a role in protein transport. Expression of this gene is restricted to placenta and liver, suggesting that it might be involved in Rab27A-dependent membrane trafficking in specific tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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